ClinVar Miner

Submissions for variant NM_000203.4(IDUA):c.53T>C (p.Leu18Pro) (rs794726878)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000592086 SCV000800112 likely pathogenic Dysostosis multiplex 2018-05-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724295 SCV000700757 pathogenic not provided 2016-12-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595616 SCV000700758 pathogenic Mucopolysaccharidosis, MPS-I-H/S 2016-12-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598200 SCV000700759 pathogenic Mucopolysaccharidosis, MPS-I-S 2016-12-22 criteria provided, single submitter clinical testing

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